Varaico: Literature-Extracted Genetic Variants

AEBP1

145 papers

RefSeq Summary

This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation....

Pfam Domains

F5_F8_type_Caa 399–537UCSCF5/8 type C domain

Peptidase_M14aa 570–896UCSCZinc carboxypeptidase

CarboxypepD_regaa 907–982UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

AE binding protein 1

HGNC Alias Symbol

ACLP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001129.5

p.I747V

c.2239A>G

Surrounding Variants

3 papers

NM_001129.5

p.R745Q

c.2234G>A

2 papers

NM_001129.5

p.W750R

c.2248T>A

2 papers

NM_001129.5

p.W750R

c.2248T>C

2 papers

NM_001129.5

p.E766*

c.2296G>T

3 papers

NM_001129.5

p.A776V

c.2327C>T

1 paper

NM_001129.5

p.A788_M789ins9

c.2362_2366ins27

1 paper

NM_001129.5

p.E795insFs

c.2383dupG

1 paper

NM_001129.5

p.E795fs

c.2383_2384fs

1 paper

NM_001129.5

p.E802K

c.2404G>A

1 paper

NM_001129.5

p.A810T

c.2428G>A

1 paper

NM_001129.5

p.I817I

c.2451C>T

2 papers

NM_001129.5

p.R732S

c.2194C>A